Rare disease companies develop diagnostics, therapies and research technologies for conditions affecting relatively small patient populations. Their work often focuses on inherited disorders, complex diagnostic pathways and diseases with limited or no existing treatment options.
This category includes companies working on:
Browse 141 UK rare disease companies below.
Small molecule drug discovery targeting rare genetic diseases and oncology
Tay Therapeutics is a drug discovery company developing targeted small molecule therapies for rare genetic diseases and cancer. Its platform uses stop codon read-through technology to restore production of functional proteins disrupted by premature stop codon mutations, with programmes targeting oncology, cystic…
Clinical-stage antifungal drug developer targeting invasive fungal infections
F2G is a clinical-stage biopharmaceutical company developing novel antifungal therapies for life-threatening invasive fungal infections. The company discovered the orotomides, a new class of antifungal agents that selectively inhibit fungal dihydroorotate dehydrogenase, a mechanism of action distinct from all approved…
Drug discovery platform targeting biomolecular condensates
Transition Bio is a biotechnology company developing a drug discovery platform based on the biology of biomolecular condensates, the membrane-less cellular structures implicated in a range of diseases. Using droplet microfluidics and machine learning, the company maps and modulates condensate behaviour to identify…
Patient-derived mitochondrial screening for preclinical drug discovery
Mitotype Precision Labs is a contract research organisation providing patient-derived cellular assays for drug discovery and preclinical evaluation. Its screening services use fibroblasts, neurons and astrocytes to measure mitochondrial function, lysosomal biology and other disease-relevant cellular responses. The…
Transformative medicines for cystic fibrosis and serious genetic diseases
Vertex Pharmaceuticals is a global biopharmaceutical company with its European R&D headquarters at Milton Park, Oxfordshire, and its international commercial headquarters in London. The Oxford site conducts full-spectrum drug discovery encompassing human genetics, structural biology, and medicinal chemistry, and has…
Stem-cell disease models and multi-omics toxicology platforms
Stemnovate is a Cambridge biotechnology company developing human stem-cell models and multi-omics platforms for drug discovery and toxicology. Its induced pluripotent stem cell biobank supports reprogramming, differentiation and the development of disease-relevant cellular models. Genomic, transcriptomic, proteomic…
Curative genetic medicines for peripheral nerve diseases
CureAge Therapeutics develops genetic medicines for peripheral nerve disorders, initially targeting neurofibromatosis type 1 (NF1). Its investigational platform uses locally delivered lipid nanoparticles to carry genetic material into Schwann cells, aiming to restore NF1 gene function and address surrounding tumour…
UK commercial base for a rare metabolic disease biotech
Amicus Therapeutics UK is the British subsidiary of Amicus Therapeutics, a US-listed biotechnology company focused on rare metabolic diseases. The company develops enzyme replacement therapies and gene therapies targeting lysosomal storage disorders, with approved medicines for Pompe disease and Fabry disease. The UK…
Clinical-stage therapeutics for advanced liver disease
Yaqrit is a clinical-stage biotechnology company developing treatments for patients with advanced liver disease, including cirrhosis and acute-on-chronic liver failure. Its pipeline includes an oral ammonia scavenger for hepatic encephalopathy, an extracorporeal liver support device, and a microbiome-based…
AAV gene therapy for Bardet-Biedl syndrome and genetic obesity
Axovia Therapeutics is a biotechnology company developing adeno-associated viral gene therapies for inherited ciliopathies and genetic obesity. Its lead candidate delivers a functional BBS1 gene into retinal cells to investigate treatment of vision loss associated with Bardet-Biedl syndrome. A first-in-human, early…
Precision medicines targeting protein isoforms for neuromuscular disease
ISOgenix is a biotechnology company developing precision medicines that target disease-relevant protein isoforms for neuromuscular and neurological conditions. The company's approach focuses on identifying and modulating specific isoforms produced through alternative gene splicing and epigenetic regulation, aiming to…
AAV gene therapy platform targeting podocyte-mediated kidney disease
Purespring Therapeutics is a clinical-stage biotech developing AAV-based gene therapies for chronic kidney disease. Its platform delivers therapeutic transgenes directly to podocytes, specialised cells implicated in the majority of renal diseases, enabling disease-modifying treatment of both rare monogenic and more…
AI-powered rare disease case finding for primary care
Mendelian is a digital health software company developing AI-driven tools to support the earlier diagnosis of rare diseases in primary care. Its core product is a Class 1 regulated medical device that analyses electronic health records to identify patients whose symptom profiles are consistent with published…
Mitochondrial sulfide-donor therapeutics for obesity and myopathies
MitoRx Therapeutics is a company developing first-in-class small molecule therapeutics that target mitochondrial sulfide signalling, a mechanism implicated in metabolic dysfunction and muscle disease. Its lead programme is an injectable mitochondria-targeted sulfide donor designed to achieve fat loss without lean mass…
Specialist CRO for rare disease drug development and commercialisation
TMC Pharma Services is a contract research organisation specialising in drug development support for rare and orphan diseases. The company serves small and mid-sized biotech and biopharma clients across the full development lifecycle, providing regulatory affairs, clinical development, pharmacovigilance, medical…
Convection enhanced delivery consulting and devices for CNS therapeutics
Neurochase is a contract research and consulting organisation specialising in targeted drug delivery to the CNS using convection enhanced delivery. Working with pharmaceutical and biotechnology companies, it designs and optimises delivery strategies for gene therapies and other treatments directed at specific brain…
Takeda's UK clinical development and drug discovery operations
Takeda UK encompasses the British operations of Takeda Pharmaceutical Company, one of the world's largest biopharmaceutical companies. The London-based Takeda Development Centre Europe leads clinical development, regulatory affairs, and medical affairs across oncology, neuroscience, gastrointestinal disease, rare…
Targeting developmentally-silent oncogenic drivers for cancer therapy
Awen Oncology is a Welsh oncology biotechnology company developing first-in-class therapeutics that target cancer-specific proteins derived from developmental genes that are dormant in healthy adult tissue but aberrantly reactivated in tumour cells. The company's platform integrates high-throughput cell and molecular…
Full-service CRO and pharmacovigilance services for biopharma
Ergomed is a global contract research organisation providing clinical development, pharmacovigilance, and regulatory compliance services to the pharmaceutical and biotechnology industries. Operating across more than 100 countries, the group manages Phase I to IV clinical trials with particular depth in oncology and…
Full-service contract research organisation for clinical trials
Worldwide Clinical Trials is a global contract research organisation providing clinical development services to pharmaceutical and biotechnology companies. It supports studies from early to late phase, including clinical operations, biostatistics, data management, medical writing, regulatory affairs and…